Unfollowed Pregnancy and Unexpected Result: A Harlequin Neonate

Background: Prenatal consultation of a couple and medical follow-up of a pregnant woman is an essential part of health care while absence of these is associated with significant perinatal morbidity and mortality. Herein, a non-followed pregnancy resulted birth of a neonate with harlequin ichthyosis is presented. Harlequin fetus is rarely seen autosomal recessive disorder and is the most severe form of the congenital icthyosis, charachterized by thickened, hyperkeratotic skin with deep fissures over the entire of the body. However, diagnosis in first trimester is difficult, high risk patients for autosomal recessive disorders can be identified with prenatal consultation or diagnosis can be suspected with second or third trimester ultrasonography. Thus, an unfavourable outcome can be averted.